Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31008517C>A , CM000668.2:g.31008517C>A | GRCh38 |
| NC_000006.11:g.30976294C>A , CM000668.1:g.30976294C>A | GRCh37 |
| NC_000006.10:g.31084273C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001198815.1:c.-37-2153C>A | NP_001185744.1:n.-37-2153C>A | |
| NM_001318484.1:c.8-2188C>A | NP_001305413.1:n.8-2188C>A |